A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606342



Internal ID6993278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114501210..114535659hg38UCSC Ensembl
Innerchr5:114501210..114535659hg38UCSC Ensembl
Outerchr5:114500710..114536159hg38UCSC Ensembl
chr5:113836907..113871356hg19UCSC Ensembl
Innerchr5:113836907..113871356hg19UCSC Ensembl
Outerchr5:113836407..113871856hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3834450
hg1934450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023927, essv12023928
SamplesHG01275, HG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606342
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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